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Nat Genet. 1994 Jun;7(2):136-41.

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

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  • 1Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

Abstract

Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encoding the beta-subunit of the glycine receptor (Glrb) underlie spa: Glrb maps to the same region of mouse chromosome 3 as spa, and Glrb mRNA is markedly reduced throughout brains of spa mice, most likely as a result of an insertional mutation of a 7.1 kilobase LINE-1 element within intron 6 of Glrb. These results provide evidence that Glrb is necessary for postsynaptic expression of glycine receptor complexes, and suggest Glrb as a candidate gene for inherited myoclonus in other species.

PMID:
7920630
[PubMed - indexed for MEDLINE]
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